CSTA (cystatin A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1475
Gene name Cystatin A
Gene symbol CSTA
Synonyms (NCBI Gene)
AREIPSS4STF1STFA
Chromosome 3
Chromosome location 3q21.1
Summary The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs149474339 C>T Pathogenic Stop gained, coding sequence variant
rs387906689 C>T Pathogenic Coding sequence variant, stop gained
rs398122804 A>T Pathogenic Splice acceptor variant
rs747711488 A>T Pathogenic Stop gained, coding sequence variant
rs1321015847 TT>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
25
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
miRTarBase ID miRNA Experiments Reference
MIRT913375 hsa-miR-1225-5p CLIP-seq
MIRT913376 hsa-miR-1293 CLIP-seq
MIRT913377 hsa-miR-141 CLIP-seq
MIRT913378 hsa-miR-199a-3p CLIP-seq
MIRT913379 hsa-miR-199b-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
FOS Unknown 9651321
JUN Unknown 9651321
JUND Unknown 9651321
TFAP2C Unknown 11095974
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 10908733
GO:0001533 Component Cornified envelope TAS
GO:0002020 Function Protease binding IEA
GO:0002020 Function Protease binding IPI 6203523
GO:0004866 Function Endopeptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
184600 2481 ENSG00000121552
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01040
Protein name Cystatin-A (Cystatin-AS) (Stefin-A) [Cleaved into: Cystatin-A, N-terminally processed]
Protein function This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.
PDB 1CYU , 1CYV , 1DVC , 1DVD , 1GD3 , 1GD4 , 1N9J , 1NB3 , 1NB5 , 3K9M , 3KFQ , 3KSE , 8GT0 , 8GT7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 4 → 92 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the skin throughout the epidermis. {ECO:0000269|PubMed:21944047}.
Sequence
Sequence length 98
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Formation of the cornified envelope
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Peeling skin syndrome 4 Pathogenic; Likely pathogenic rs747711488, rs149474339, rs398122804, rs387906689 RCV000190494
RCV000190495
RCV000022773
RCV000022774
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACRAL PEELING SKIN SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CSTA-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (91)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acral peeling skin syndrome Acral Peeling Skin Syndrome Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adenocarcinoma Adenocarcinoma BEFREE 21325429, 29581829
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28898495
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29434563
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29434563
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35844557 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 17441792
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 10652560, 20392989
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 10653164
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 30854931 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only